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Detecting a brachyspina mutation

a brachyspina and mutation technology, applied in the field of detection of brachyspina mutations, can solve the problems of increasing inbreeding, emergence of novel recessive defects, and important economic losses, and achieves the effects of increasing stillbirth, reducing non-return rate, and increasing culling ra

Active Publication Date: 2015-09-03
UNIV LIEGE +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Benefits of technology

The patent text describes a way to detect a mutation in livestock that affects their ability to have calves. This mutation, called brachyspina, is common in certain breeds of cattle and can be tested for using genetic tests on nucleic acid from biological samples. This information can be used to select for animals with higher fertility. The technical effect is the ability to enhance the breeding of livestock by selecting for animals with higher fertility through marker assisted selection.

Problems solved by technology

Intense selection for desired characteristics in livestock often results in increased inbreeding which contributes to the emergence of novel recessive defects.
Calf mortality resulting from such defects causes important economic losses and raises welfare concerns.
However, because the association between the disease causing “d” allele and the SNP alleles is not perfect, such indirect test suffer from a lack of senstivity and specificity.

Method used

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  • Detecting a brachyspina mutation
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  • Detecting a brachyspina mutation

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Experimental program
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Embodiment Construction

Autozygosity-Mapping Positions the Brachyspina Locus in a 2.5 Mb BTA21 Interval.

[0080]Between January 2008 and December 2009, we obtained biological material from six Holstein-Friesian calves diagnosed with brachyspina. As the previously reported cases (f.i. 4), the six affected animals traced back, on sire and dam side, to Sweet Haven Tradition, a once popular artificial insemination (AI) Holstein-Friesian bull. Genomic DNA was extracted using standard procedures and genotyped using a previously described bovine 50K SNP array (3). Assuming that brachyspina is indeed inherited as a autosomal recessive defect and genetically homogeneous in Holstein-Friesian (as suggested from pedigree analysis), the six cases are predicted to be homozygous for a common haplotype encompassing the causative mutation. We performed autozygosity mapping using the ASSIST program (3) and 15 healthy Holstein-Friesian bulls as controls, and identified a single genome-wide significant peak (p<0.001) on chromos...

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Abstract

This invention relates to methods for the detection of a bovine that is affected by or carrier of brachyspina. It is based on the identification of a 3.3 Kb deletion in the bovine FANCI gene that is shown to cause the brachyspina syndrome. The present invention provides methods and uses for determining whether a bovine is affected by or carrier of brachyspina by analyzing its genomic DNA or its RNA. The methods can be used to perform marker assisted selection or genomic selection for increased fertility in said bovine.

Description

FIELD OF THE INVENTION[0001]This invention relates to methods for the detection of a bovine that is affected by or carrier of brachyspina, an inherited defect with autosomal recessive inheritance. The present invention provides methods for determining whether a bovine is affected by or carrier of brachyspina by analyzing its genomic DNA or its RNA. The methods include obtaining a sample of material containing genomic DNA or RNA from the bovine, and genotyping said nucleic acid for the presence of a 3.3 Kb deletion (nucleotide positions 20537017 to 20540346 in the bTau4.0 genome build) eliminating exons 25, 26 and 27 of the bovine FANCI gene, the mutation causing the brachyspina syndrome.DESCRIPTION OF THE BACKGROUND ARTMarker Assisted Selection Against Genetic Defects in Livestock.[0002]Intense selection for desired characteristics in livestock often results in increased inbreeding which contributes to the emergence of novel recessive defects. Examples of such outburst in Holstein-F...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6883C12Q2600/118C12Q2600/156C12Q2600/124
Inventor GEORGES, MICHELCOPPIETERS, WOUTERCHARLIER, CAROLEAGERHOLM, JORGEN STEENFREDHOLM, MERETEKARLSKOV-MORTENSEN, PETER
Owner UNIV LIEGE